IthaID: 1252



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 131 CAG>AAG HGVS Name: HBB:c.394C>A
Hb Name: Hb Shelby Protein Info: β 131(H9) Gln>Lys

Context nucleotide sequence:
CACCCCACCAGTGCAGGCTGCCTAT [A/C/G] AGAAAGTGGTGGCTGGTGTGGCTAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYKKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71968
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
470Hb ShelbyβD-10Dual Kit Program11.73.06Compound heterozygous Hb Shelby / Beta zero Thalassemia. [PDF]
473Hb ShelbyβD-10Dual Kit Program5.83.1heterozygote[PDF]
44Hb ShelbyβVARIANT IIDual Kit Program73.64.74Compound heterozygote between Hb Shelby and beta (0) Thal.[PDF]
472Hb ShelbyβVARIANT IIDual Kit Program12.22.968Compound heterozygous Hb Shelby / Beta zero Thalassemia. [PDF]
476Hb ShelbyβVARIANT IIDual Kit Program3.92.979heterozygote[PDF]
471Hb ShelbyβVARIANTβ-thal Short Program10.63.61Compound heterozygous Hb Shelby / Beta zero Thalassemia. [PDF]
474Hb ShelbyβVARIANTβ-thal Short Program3.93.62heterozygote[PDF]
475Hb ShelbyβVARIANT IIβ-thal Short Program4.43.66heterozygote[PDF]

Sequence Viewer

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Publications / Origin

  1. Lutcher CL, Wilson JB, Gravely ME, Stevens PD, Chen CJ, Lindeman JG, Wong SC, Miller A, Gottleib M, Huisman TH, Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS., Blood, 47(1), 99-112, 1976 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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